Sequenom, Fueled by Blood Test for Down’s, Aims To Be “Google of Molecular Diagnostics”

It will have results comparing its test in 800 to 1,000 patients by January, and another 3,000 to 5,000 patients by June, Stylli says. The company doesn’t need FDA approval, because it’s not marketing a test to doctors to buy—instead it will sell the service, and perform the sequencing work at a certified clinical diagnostics laboratory it bought last month in Grand Rapids, MI.

The size of the market is still a bit of a guess, but it’s certain this test won’t be cheap. Sequenom is still figuring out how to set the price, but it will probably be $600 to $1,000, Stylli says. It will market the device on its own, with a sales force of about 100 people.

This technology ought to be applied to hundreds, if not thousands of pre-natal genetic tests, so Down’s should be the beginning. Maybe I was just being provocative, but I asked Stylli toward the end of the interview if he’s trying to build a new-generation version of Abbott Laboratories, the diversified maker of drugs, diagnostics, and medical devices. He looked at me like that was a weird question. “We want to be the next Google for molecular diagnostics and personalized medicine,” he says. “Think about how important that is.”

He’s right—it is important, and a transformative idea for medicine. How much of this burgeoning market ultimately gets captured by Sequenom is a question we’ll be able to better answer a year from now.